Preferred Name

NOONAN SYNDROME 7

Synonyms

NS7

ID

http://purl.bioontology.org/ontology/OMIM/613706

altLabel

NS7

cui

C3150970

Gene Locus

7q34

Gene Symbol

NS7

BRAF

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU037782

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU054853

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU013668

http://purl.bioontology.org/ontology/OMIM/MTHU001564

http://purl.bioontology.org/ontology/OMIM/MTHU054851

http://purl.bioontology.org/ontology/OMIM/MTHU069118

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU054852

http://purl.bioontology.org/ontology/OMIM/MTHU054850

http://purl.bioontology.org/ontology/OMIM/MTHU036403

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU006836

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

613706

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NOONAN SYNDROME 7

Scope Statement

Caused by mutation in the murine sarcoma viral (v-raf) oncogene homolog B1 gene (BRAF, 164757.0022) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176935 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0013379 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060585 Human Disease Ontology / 人类疾病本体 LOOM